Variant (rsID / SNP)

rs142708991

rs142708991 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CYP7A1. Location: chromosome 8, position 59,404,935. Clinical significance in the table: Likely benign.

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Reference-table entries

CYP7A1Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 8:59404935
Cytoband: 8q12.1
HGVS: NM_000780.4(CYP7A1):c.1192C>G (p.Pro398Ala)
Allele change: Missense_P398A

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.